A curated catalogue of human genomic structural variation




Variant Details

Variant: nsv3206916



Internal ID22355389
Landmark
Location Information
TypeCoordinatesAssemblyOther Links
chr2:10409701..10411400hg38UCSC Ensembl
chr2:10549827..10551526hg19UCSC Ensembl
Cytoband2p25.1
Allele length
AssemblyAllele length
hg381700
hg191700
Variant TypeCNV deletion
Copy Number
Allele State
Allele Origin
Probe Count
Validation Flag
Merged StatusM
Merged Variantsdgv4474n152
Supporting Variantsnssv14287617, nssv14287618, nssv14287619, nssv14287623, nssv14287624, nssv14287621, nssv14287620, nssv14287622, nssv14287616
SamplesHG00512, NA19238, NA19239, HG00731, HG00732, NA19240, HG00733, HG00513, HG00514
Known GenesHPCAL1
MethodSequencing
AnalysisMultiple analysis algorthms
PlatformIllumina HiSeq
Comments
ReferenceChaisson_et_al_2019
Pubmed ID30992455
Accession Number(s)nsv3206916
Frequency
Sample Size9
Observed Gain0
Observed Loss9
Observed Complex0
Frequencyn/a


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